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Record W2049061886 · doi:10.1007/s00401-015-1401-8

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

2015· article· nl· W2049061886 on OpenAlexaff
Zhengrui Xi, Ming Zhang, Amalia C. Bruni, Raffaele Maletta, Rosanna Colao, Pietro Fratta, James M. Polke, Mary G. Sweeney, Ese Mudanohwo, Benedetta Nacmias, Sandro Sorbi, Maria Carmela Tartaglia, Innocenzo Rainero, Elisa Rubino, Lorenzo Pinessi, Daniela Galimberti, Ezequiel Surace, Philip McGoldrick, Paul M. McKeever, Danielle Moreno, Christine Sato, Yan Liang, Julia Keith, Lorne Zinman, Janice Robertson, Ekaterina Rogaeva

Bibliographic record

VenueActa Neuropathologica · 2015
Typearticle
Languagenl
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsSunnybrook Health Science CentreHealth Sciences CentreCanada Research ChairsDiscovery CentreUniversity of Toronto
FundersMedical Research CouncilMotor Neurone Disease Association
KeywordsTrinucleotide repeat expansionDNA methylationHaploinsufficiencyC9orf72BiologyGeneticsCpG siteMethylationAmyotrophic lateral sclerosisProbandAlleleDNAPhenotypeMutationMedicinePathologyDiseaseGeneGene expression

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.005
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.379
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.005
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0000.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.060
GPT teacher head0.307
Teacher spread0.248 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations138
Published2015
Admission routes1
Has abstractno

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